Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02302:Mfsd13b'

287421

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mfsd13b

Ensembl Gene

ENSMUSG00000030877

Gene Name

major facilitator superfamily domain containing 13B

Synonyms

4933427G17Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

IGL02302

Quality Score

Status

Chromosome

Chromosomal Location

120581732-120614010 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120598132 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 346 (V346A)

Ref Sequence

ENSEMBL: ENSMUSP00000033166 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033166] [ENSMUST00000216241]

AlphaFold

A0A1L1SUA2

Predicted Effect

probably damaging
Transcript: ENSMUST00000033166
AA Change: V346A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000033166
Gene: ENSMUSG00000030877
AA Change: V346A

Domain	Start	End	E-Value	Type
Pfam:MFS_2	9	439	5.1e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000133939

SMART Domains

Protein: ENSMUSP00000121409
Gene: ENSMUSG00000030877

Domain	Start	End	E-Value	Type
transmembrane domain	48	67	N/A	INTRINSIC
transmembrane domain	74	96	N/A	INTRINSIC
transmembrane domain	131	153	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216241
AA Change: V346A

PolyPhen 2 Score 0.723 (Sensitivity: 0.86; Specificity: 0.92)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700066M21Rik	A	T	1: 57,422,257 (GRCm39)	Q211L	possibly damaging	Het
Abca14	T	A	7: 119,917,968 (GRCm39)		probably benign	Het
Abcb10	A	T	8: 124,685,411 (GRCm39)	V543D	possibly damaging	Het
Ankrd17	G	A	5: 90,431,057 (GRCm39)	T909I	probably benign	Het
Arhgef3	A	G	14: 27,084,799 (GRCm39)	N76S	probably benign	Het
Bbx	A	T	16: 50,045,278 (GRCm39)	C320S	probably damaging	Het
Castor2	G	A	5: 134,164,482 (GRCm39)	V148I	possibly damaging	Het
Cdh23	C	A	10: 60,159,302 (GRCm39)	V2159F	possibly damaging	Het
Cmtr2	G	A	8: 110,948,136 (GRCm39)	A149T	probably damaging	Het
Cntnap4	A	G	8: 113,512,535 (GRCm39)		probably benign	Het
Col6a3	A	T	1: 90,709,482 (GRCm39)	F1905I	unknown	Het
Ddx60	A	G	8: 62,428,866 (GRCm39)	Y792C	possibly damaging	Het
Dennd2b	A	G	7: 109,124,538 (GRCm39)	V1101A	probably damaging	Het
Dock4	T	C	12: 40,775,776 (GRCm39)	L573P	probably damaging	Het
Dop1b	A	G	16: 93,607,005 (GRCm39)	I2103V	probably benign	Het
Ear1	T	G	14: 44,056,504 (GRCm39)	Q121H	probably benign	Het
Eprs1	T	A	1: 185,119,321 (GRCm39)		probably benign	Het
Ero1a	T	C	14: 45,530,619 (GRCm39)	K271R	probably benign	Het
Esyt1	A	G	10: 128,348,236 (GRCm39)	L884P	probably damaging	Het
F2r	T	C	13: 95,741,160 (GRCm39)	N125S	probably damaging	Het
Fam217a	T	C	13: 35,095,144 (GRCm39)	E357G	probably damaging	Het
Gabbr1	C	T	17: 37,365,689 (GRCm39)	R123W	probably damaging	Het
Gimap4	T	G	6: 48,667,347 (GRCm39)	V34G	probably damaging	Het
Gm3248	A	T	14: 5,943,011 (GRCm38)	V180E	probably benign	Het
Hecw2	A	T	1: 53,972,407 (GRCm39)	N204K	probably damaging	Het
Ighv1-84	T	A	12: 115,944,549 (GRCm39)	K42*	probably null	Het
Kcnh7	T	A	2: 62,536,402 (GRCm39)	Q1060L	probably damaging	Het
Kif3b	T	A	2: 153,158,868 (GRCm39)	I223N	probably damaging	Het
Lama2	G	A	10: 27,088,039 (GRCm39)	P913S	probably benign	Het
Lgr4	A	G	2: 109,832,841 (GRCm39)	I334M	probably damaging	Het
Lrrc45	G	T	11: 120,609,351 (GRCm39)	E403D	possibly damaging	Het
Mccc2	A	G	13: 100,090,747 (GRCm39)	L462P	probably damaging	Het
Muc6	T	C	7: 141,227,763 (GRCm39)	T1342A	possibly damaging	Het
Mxd3	T	C	13: 55,477,091 (GRCm39)	N56S	probably benign	Het
Niban2	A	G	2: 32,811,135 (GRCm39)	I382V	probably benign	Het
Ntn5	G	T	7: 45,343,672 (GRCm39)	R337L	probably damaging	Het
Nynrin	A	G	14: 56,105,962 (GRCm39)	K894E	probably benign	Het
Or1j4	G	T	2: 36,740,715 (GRCm39)	G219V	probably benign	Het
Or2a25	T	A	6: 42,889,272 (GRCm39)	Y272N	probably damaging	Het
Or4f56	A	C	2: 111,703,887 (GRCm39)	S104R	possibly damaging	Het
Or7e168	A	T	9: 19,719,981 (GRCm39)	R122S	probably damaging	Het
Pappa2	T	C	1: 158,542,571 (GRCm39)	D1772G	probably benign	Het
Pcdh18	G	T	3: 49,710,387 (GRCm39)	F309L	probably benign	Het
Pcdhac2	G	T	18: 37,279,006 (GRCm39)	R662L	probably damaging	Het
Ppp5c	G	A	7: 16,742,555 (GRCm39)	S261L	possibly damaging	Het
Qng1	G	A	13: 58,529,749 (GRCm39)	R288W	probably damaging	Het
Rc3h1	T	C	1: 160,765,675 (GRCm39)		probably benign	Het
Rfx8	A	C	1: 39,704,682 (GRCm39)	S578A	possibly damaging	Het
Rhbdl3	T	G	11: 80,244,507 (GRCm39)	*405E	probably null	Het
Rita1	C	T	5: 120,747,858 (GRCm39)	A147T	probably damaging	Het
Rnf139	G	T	15: 58,770,606 (GRCm39)	L210F	probably damaging	Het
Rragc	A	G	4: 123,814,879 (GRCm39)	R192G	possibly damaging	Het
Ryr3	A	T	2: 112,794,701 (GRCm39)	V137E	probably damaging	Het
S100pbp	A	T	4: 129,076,234 (GRCm39)	D30E	probably damaging	Het
Smchd1	A	T	17: 71,665,128 (GRCm39)		probably benign	Het
Sppl3	T	A	5: 115,220,390 (GRCm39)	C101S	probably benign	Het
St8sia6	T	C	2: 13,728,324 (GRCm39)	T74A	probably benign	Het
Sult3a1	A	G	10: 33,742,571 (GRCm39)	N66S	possibly damaging	Het
Sv2b	T	A	7: 74,773,947 (GRCm39)	K508M	probably damaging	Het
Terf1	T	C	1: 15,903,626 (GRCm39)	S275P	probably damaging	Het
Tmed8	G	T	12: 87,220,990 (GRCm39)	H199N	probably damaging	Het
Tubg2	A	T	11: 101,046,971 (GRCm39)	Q9L	probably damaging	Het
Ubxn4	C	T	1: 128,183,848 (GRCm39)		probably benign	Het
Usp34	C	T	11: 23,417,243 (GRCm39)	T2964I	possibly damaging	Het
Zfp213	A	G	17: 23,776,945 (GRCm39)	S366P	possibly damaging	Het

Other mutations in Mfsd13b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02985:Mfsd13b	APN	7	120,599,395 (GRCm39)	missense	probably damaging	1.00
R1159:Mfsd13b	UTSW	7	120,613,766 (GRCm39)	missense	probably damaging	0.98
R2041:Mfsd13b	UTSW	7	120,591,139 (GRCm39)	splice site	probably benign
R2080:Mfsd13b	UTSW	7	120,591,047 (GRCm39)	missense	probably null
R4762:Mfsd13b	UTSW	7	120,590,549 (GRCm39)	missense	probably damaging	1.00
R4885:Mfsd13b	UTSW	7	120,590,711 (GRCm39)	missense	possibly damaging	0.80
R5082:Mfsd13b	UTSW	7	120,598,201 (GRCm39)	missense	possibly damaging	0.94
R5282:Mfsd13b	UTSW	7	120,591,056 (GRCm39)	missense	probably damaging	0.98
R5296:Mfsd13b	UTSW	7	120,590,961 (GRCm39)	missense	probably damaging	1.00
R5411:Mfsd13b	UTSW	7	120,599,346 (GRCm39)	missense	probably benign	0.03
R6563:Mfsd13b	UTSW	7	120,594,690 (GRCm39)	missense	probably damaging	0.99
R7347:Mfsd13b	UTSW	7	120,590,951 (GRCm39)	missense	probably benign	0.44
R8128:Mfsd13b	UTSW	7	120,590,495 (GRCm39)	missense	possibly damaging	0.79
R8520:Mfsd13b	UTSW	7	120,590,586 (GRCm39)	missense	probably benign
R9583:Mfsd13b	UTSW	7	120,598,134 (GRCm39)	missense	possibly damaging	0.56
Z1176:Mfsd13b	UTSW	7	120,590,900 (GRCm39)	missense	probably benign	0.10

Posted On

2015-04-16